• A Case Report of Novel Mutation in GNP in Two Siblings with Mucolipidosis Type III Alpha/beta

• Kim Min-Sun

• Park Esther, Song A-Ri, Im Min-Ji, Park Hyung-Doo, Cho Sung-Yoon, Jin Dong-Kyu

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.3 99 ~ 106

• A Case of Mitochondrial Respiratory Chain Defect with Progressive Bilateral Cararacts

• Lee Soon-Ie

• Lee Young-Mock

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.3 95 ~ 98

• A Case of Progressive FSGS and Chronic Kidney Disease in Congenital Chloride Diarrhea with SLC26A3 M...

• Seo Young-Jun

• Cheong Han-Bin, Ahn Seok-Min, Shin Woo-Chul, Bae Eun-Joo, Yoon Jong-Hyung, Jeong Hwal-Rim, ...

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.3 87 ~ 94

• Clinical Spectrum and Short-term Effects of Enzyme Replacement Therapy for Mucopolysaccharidosis Typ...

• Cheon Chong-Kun

• Hwu Wuh-Liang

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.3 78 ~ 86

• Defects in Ketone Body Metabolism and Pregnancy

• Fukao Toshiyuki

• Journal of the Korean Society of Inherited Metabolic Disease   2018  Volume.18  No.3 69 ~ 77